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Charcot-Marie-Tooth disease, Type 2D

Known as: CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2D, Charcot-Marie-Tooth Neuropathy, Type 2d, CMT2D 
Charcot-Marie-Tooth disease inherited in an autosomal dominant pattern. It is caused by mutations in the GARS gene. It results in axonal peripheral… 
National Institutes of Health

Related topics

Related topics

7 relations
Autosomal dominant inheritanceGARS, GLU71GLYHammer ToeNervous system structure

Broader (1)

Charcot-Marie-Tooth Disease

Papers overview

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Highly Cited
2016
Highly Cited
2016
2D Hexagonal Boron Nitride (2D-hBN) Explored for the Electrochemical Sensing of Dopamine.
Crystalline 2D hexagonal boron nitride (2D-hBN) nanosheets are explored as a potential electrocatalyst toward the… 
Highly Cited
2011
Highly Cited
2011
Charcot-Marie-Tooth–Linked Mutant GARS Is Toxic to Peripheral Neurons Independent of Wild-Type GARS Levels
Charcot-Marie-Tooth disease type 2D (CMT2D) is a dominantly inherited peripheral neuropathy caused by missense mutations in the… 
Highly Cited
2009
Highly Cited
2009
2D-DIGE as a strategy to identify serum markers for the progression of prostate cancer.
Prostate cancer is the most common solid organ malignancy affecting men in the United States and Western Europe. Currently, the… 
Highly Cited
2008
Highly Cited
2008
Diffuse-light two-dimensional line-of-sight attenuation for soot concentration measurements.
A technique of diffuse-light two-dimensional line-of-sight attenuation (diffuse 2D-LOSA) is described and demonstrated that… 
Highly Cited
2007
Highly Cited
2007
Cytoplasmic and mitochondrial protein translation in axonal and dendritic terminal arborization
We identified a mutation in Aats-gly (also known as gars or glycyl-tRNA synthetase), the Drosophila melanogaster ortholog of the… 
Highly Cited
2002
Highly Cited
2002
A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family
Abstract. Charcot-Marie-Tooth (CMT) disease is the most-common form of inherited motor and sensory neuropathy. The autosomal… 
Review
2001
Review
2001
Charcot–Marie–Tooth disease (CMT): distinctive phenotypic and genotypic features in CMT type 2
Highly Cited
1998
Highly Cited
1998
Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene
Charcot-Marie-Tooth disease (CMT), or hereditary motor and sensory neuropathy (HMSN), is a clinically and genetically… 
Highly Cited
1997
Highly Cited
1997
Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family.
BACKGROUND: Charcot-Marie-Tooth disease type 2 (CMT2) or hereditary motor and sensory neuropathy type II (HMSN II) is an… 
Highly Cited
1996
Highly Cited
1996
Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).
Clinical, electrophysiological and genetic linkage studies were performed on a large autosomal dominant family with Charcot-Marie… 
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